Canonical Allele Identifier: CA392307104

Gene: SLC12A1

Linked Data

• MyVariant Identifiers: chr15:g.48521478G>C (hg19) ; chr15:g.48229281G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48229281G>C , CM000677.2:g.48229281G>C	GRCh38
NC_000015.9:g.48521478G>C , CM000677.1:g.48521478G>C	GRCh37
NC_000015.8:g.46308770G>C	NCBI36
NG_021301.1:g.27981G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686073.1:c.817G>C	ENSP00000508901.1:p.Ala273Pro
ENST00000380993.8:c.817G>C MANE Select	ENSP00000370381.3:p.Ala273Pro
ENST00000646012.1:c.955G>C	ENSP00000495813.1:p.Ala319Pro
ENST00000647232.1:c.817G>C	ENSP00000493875.1:p.Ala273Pro
ENST00000647546.1:c.817G>C	ENSP00000495332.1:p.Ala273Pro
ENST00000330289.10:c.817G>C	ENSP00000331550.6:p.Ala273Pro
ENST00000380993.7:c.817G>C	ENSP00000370381.3:p.Ala273Pro
ENST00000396577.7:c.817G>C	ENSP00000379822.3:p.Ala273Pro
ENST00000558252.5:n.4940G>C
ENST00000558405.5:c.817G>C	ENSP00000453409.1:p.Ala273Pro
ENST00000559641.5:c.256G>C	ENSP00000453230.1:p.Ala86Pro
ENST00000559723.2:n.190G>C
ENST00000560692.5:n.4956G>C
ENST00000561127.5:c.256G>C	ENSP00000453602.2:p.Ala86Pro
NM_000338.2:c.817G>C	NP_000329.2:p.Ala273Pro
NM_001184832.1:c.817G>C	NP_001171761.1:p.Ala273Pro
XM_005254605.1:c.913G>C	XP_005254662.1:p.Ala305Pro
XM_005254606.1:c.817G>C	XP_005254663.1:p.Ala273Pro
XM_006720656.1:c.913G>C	XP_006720719.1:p.Ala305Pro
XR_931896.1:n.1129G>C
XR_932203.1:n.229+675C>G
XR_932204.1:n.222+675C>G
XM_005254606.2:c.817G>C	XP_005254663.1:p.Ala273Pro
XR_001751524.2:n.230+675C>G
XR_001751525.1:n.230+675C>G
XR_002957762.1:n.230+675C>G
XR_932204.3:n.224+675C>G
NM_000338.3:c.817G>C MANE Select	NP_000329.2:p.Ala273Pro
NM_001184832.2:c.817G>C	NP_001171761.1:p.Ala273Pro
NM_001384136.1:c.817G>C	NP_001371065.1:p.Ala273Pro